There are many ways to contribute to research through sharing your experiences. Understanding the progression of these diseases is critical to the development of a clinical trial. You can play a role by participating in natural history studies, registries and other data collection studies. If you are considering participating in a research study, you are welcome to call NTSAD to discuss the benefits and risks. Below are current ways to contribute.
CanInform
A natural history study for Canavan disease sponsored by Aspa Therapeutics.
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders (NIH)
This is a natural history study that will evaluate any patient with enzymeAccording to Genome.gov, an enzyme is a biological catalyst and is almost always a protein. It speeds up the rate of a specific chemical reaction in the cell. The enzyme is not destroyed during the reaction and is used over and over. More or DNAThe chemical sequence found in genes, and which allows for the transmission of inherited information from generation to generation. More confirmed GM1 or GM2 gangliosidosis, sialidosisSialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid. More or galactosialidosis.
Patient Insights Network (PIN)
The following PINs have been set up in collaboration with Canavan Research Illinois, the Canavan Foundation, Cure GM1 Foundation and Cure Tay-Sachs Foundation respectively.
PRONTO – Azafaros
A natural history study of GM1 and GM2 (Sandhoff and Tay-Sachs) – Clinical Trial #NCT05109793
Data about the progression of neurological manifestations in the late-infantile or juvenile onset forms of GM1 and GM2 is limited to single patient case reports and small case studies. Taking part in a Natural History study will help collect data in a systematic way, with measurements harmonies between the participating centers. These studies will help in the design of future studies with new future treatments in a more rigorous scientific way.
View video about the study here in either Brazilian Portgueses, French, German, Italian, English (UK), English (United States).
UPenn – Natural History Study of Infantile and Juvenile GM1 Gangliosidosis (GM1) Patients
A natural history study of GM1 gangliosidosis sponsored by Passage Bio.
Need Help?
If you have questions or need more information about research to support your individual or family decisions, please email Family Services Manager Becky Benson (becky@ntsad.org) or Director of Family Services Diana Jussila (formerly Pangonis) (diana@ntsad.org).
